Mutation screening and identification of a sequence variation in the human ob gene coding region

Robert V. Considine; Eileen L. Considine; Charlene J. Williams; Mark R. Nyce; Peili Zhang; Irina Opentanova; Joanna P. Ohannesian; Jerzy W. Kolaczynski; Thomas L. Bauer; John H. Moore; Jose F. Caro

doi:10.1006/bbrc.1996.0473

Mutation screening and identification of a sequence variation in the human ob gene coding region

Robert V. Considine, Eileen L. Considine, Charlene J. Williams, Mark R. Nyce, Peili Zhang, Irina Opentanova, Joanna P. Ohannesian, Jerzy W. Kolaczynski, Thomas L. Bauer, John H. Moore, Jose F. Caro

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Abstract

In the present study mRNA from the subcutaneous adipose tissue of 68 obese (defined as a body mass index ≥ 27.3 for men and ≥ 27.8 for women) and 38 lean subjects was screened for mutations in the ob gene coding region. No mutations in the coding region of the human ob gene were detected using Conformation Sensitive Gel Electrophoresis in 105 subjects. A first base substitution (G to A) was detected in one individual, which changed a valine to a methionine at position 94. The mRNA of all subjects contained the codon for glutamine-49, ruling out the possibility of a splice defect occurring during the removal of intron 2. These observations suggest that defects in the ob gene sequence itself are not the primary cause of obesity in humans.

Original language	English (US)
Pages (from-to)	735-739
Number of pages	5
Journal	Biochemical and Biophysical Research Communications
Volume	220
Issue number	3
DOIs	https://doi.org/10.1006/bbrc.1996.0473
State	Published - Mar 27 1996
Externally published	Yes

All Science Journal Classification (ASJC) codes

Biophysics
Biochemistry
Molecular Biology
Cell Biology

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Considine, R. V., Considine, E. L., Williams, C. J., Nyce, M. R., Zhang, P., Opentanova, I., Ohannesian, J. P., Kolaczynski, J. W., Bauer, T. L., Moore, J. H., & Caro, J. F. (1996). Mutation screening and identification of a sequence variation in the human ob gene coding region. Biochemical and Biophysical Research Communications, 220(3), 735-739. https://doi.org/10.1006/bbrc.1996.0473

@article{3a2235ce351044078413076e8d343164,

title = "Mutation screening and identification of a sequence variation in the human ob gene coding region",

abstract = "In the present study mRNA from the subcutaneous adipose tissue of 68 obese (defined as a body mass index ≥ 27.3 for men and ≥ 27.8 for women) and 38 lean subjects was screened for mutations in the ob gene coding region. No mutations in the coding region of the human ob gene were detected using Conformation Sensitive Gel Electrophoresis in 105 subjects. A first base substitution (G to A) was detected in one individual, which changed a valine to a methionine at position 94. The mRNA of all subjects contained the codon for glutamine-49, ruling out the possibility of a splice defect occurring during the removal of intron 2. These observations suggest that defects in the ob gene sequence itself are not the primary cause of obesity in humans.",

author = "Considine, {Robert V.} and Considine, {Eileen L.} and Williams, {Charlene J.} and Nyce, {Mark R.} and Peili Zhang and Irina Opentanova and Ohannesian, {Joanna P.} and Kolaczynski, {Jerzy W.} and Bauer, {Thomas L.} and Moore, {John H.} and Caro, {Jose F.}",

note = "Funding Information: This work was supported in part by Grant R01 DK45592 from the National Institutes of Health and a grant from the Margaret Q. Landenberger Foundation.",

year = "1996",

month = mar,

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doi = "10.1006/bbrc.1996.0473",

language = "English (US)",

volume = "220",

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journal = "Biochemical and Biophysical Research Communications",

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Considine, RV, Considine, EL, Williams, CJ, Nyce, MR, Zhang, P, Opentanova, I, Ohannesian, JP, Kolaczynski, JW, Bauer, TL, Moore, JH & Caro, JF 1996, 'Mutation screening and identification of a sequence variation in the human ob gene coding region', Biochemical and Biophysical Research Communications, vol. 220, no. 3, pp. 735-739. https://doi.org/10.1006/bbrc.1996.0473

TY - JOUR

T1 - Mutation screening and identification of a sequence variation in the human ob gene coding region

AU - Considine, Robert V.

AU - Considine, Eileen L.

AU - Williams, Charlene J.

AU - Nyce, Mark R.

AU - Zhang, Peili

AU - Opentanova, Irina

AU - Ohannesian, Joanna P.

AU - Kolaczynski, Jerzy W.

AU - Bauer, Thomas L.

AU - Moore, John H.

AU - Caro, Jose F.

N1 - Funding Information: This work was supported in part by Grant R01 DK45592 from the National Institutes of Health and a grant from the Margaret Q. Landenberger Foundation.

PY - 1996/3/27

Y1 - 1996/3/27

N2 - In the present study mRNA from the subcutaneous adipose tissue of 68 obese (defined as a body mass index ≥ 27.3 for men and ≥ 27.8 for women) and 38 lean subjects was screened for mutations in the ob gene coding region. No mutations in the coding region of the human ob gene were detected using Conformation Sensitive Gel Electrophoresis in 105 subjects. A first base substitution (G to A) was detected in one individual, which changed a valine to a methionine at position 94. The mRNA of all subjects contained the codon for glutamine-49, ruling out the possibility of a splice defect occurring during the removal of intron 2. These observations suggest that defects in the ob gene sequence itself are not the primary cause of obesity in humans.

AB - In the present study mRNA from the subcutaneous adipose tissue of 68 obese (defined as a body mass index ≥ 27.3 for men and ≥ 27.8 for women) and 38 lean subjects was screened for mutations in the ob gene coding region. No mutations in the coding region of the human ob gene were detected using Conformation Sensitive Gel Electrophoresis in 105 subjects. A first base substitution (G to A) was detected in one individual, which changed a valine to a methionine at position 94. The mRNA of all subjects contained the codon for glutamine-49, ruling out the possibility of a splice defect occurring during the removal of intron 2. These observations suggest that defects in the ob gene sequence itself are not the primary cause of obesity in humans.

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Mutation screening and identification of a sequence variation in the human ob gene coding region

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